Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnor...

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Detalles Bibliográficos
Autores: Cano San José, Ainara, Alcalde, Carlos, Belanger Quintana, Amaya, Cañedo Villarroya, Elvira, Ceberio, Leticia, Chumillas Calzada, Silvia, Correcher, Patricia, Couce, María Luz, García Arenas, Dolores, Gómez, Igor, Hernández, Tomás, Izquierdo García, Elsa, Martínez Chicano, Dámaris, Morales, Montserrat, Pedrón Giner, Consuelo, Petrina Jáuregui, Estrella, Peña Quintana, Luis, Sánchez Pintos, Paula, Serrano Nieto, Juliana, Unceta Suárez, María, Vitoria Miñana, Isidro, De las Heras Montero, Javier Adolfo
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universidad del País Vasco
Repositorio:Addi. Archivo Digital para la Docencia y la Investigación
OAI Identifier:oai:addi.ehu.eus:10810/52461
Acceso en línea:http://hdl.handle.net/10810/52461
Access Level:acceso abierto
Palabra clave:hereditary fructose intolerance
fructose
sucrose
sorbitol
diet
sialotransferrin profile
biomarker
aldolase B
Descripción
Sumario:Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI. The CDT values improve when an FSS-restrictive diet is followed; however, previous data on CDT and fructose intake correlation are inconsistent. Therefore, we examined the complete serum sialoTf profile and correlated it with FSS dietary intake and with hepatic parameters in a cohort of paediatric and adult fructosemic patients. To do so, the profiles of serum sialoTf from genetically diagnosed HFI patients on an FSS-restricted diet (n = 37) and their age-, sex- and body mass index-paired controls (n = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, p < 0.001) and FSS (R = 0.475, p = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = −0.386, p = 0.024) and FSS (R = −0.400, p = 0.019). In addition, the tetrasialoTf/disialoTf ratio truthfully differentiated treated HFI patients from healthy controls, with an area under the ROC curve (AUROC) of 0.97, 92% sensitivity, 94% specificity and 93% accuracy.

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